Variant report

Variant	rs1866033
Chromosome Location	chr2:100722908-100722909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr2:100722887-100723124	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr2:100722750-100723268	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr2:100722835-100723140	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr2:100722884-100723300	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF263	chr2:100722846-100723321	HEK293-T-REx	kidney:	n/a	chr2:100723022-100723043
6	ZNF143	chr2:100722881-100723377	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr2:100721395-100723405	NT2-D1	testis:	n/a	n/a
8	CHD1	chr2:100722865-100723049	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMS-2	chr2:100721381-100723966	ENSG00000230393.1

Variant related genes	Relation type
AFF3	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11680846	0.80[ASN][1000 genomes]
rs11684692	0.87[ASN][1000 genomes]
rs11685258	0.87[ASN][1000 genomes]
rs11685397	0.87[ASN][1000 genomes]
rs11695782	0.80[ASN][1000 genomes]
rs12998219	0.80[ASN][1000 genomes]
rs13019124	0.87[ASN][1000 genomes]
rs17437470	1.00[ASN][1000 genomes]
rs35462405	0.87[ASN][1000 genomes]
rs35720347	0.87[ASN][1000 genomes]
rs35742951	0.93[ASN][1000 genomes]
rs6707220	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1793611	chr2:100693049-100725966	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv2847	chr2:100695863-100726149	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100721600-100723400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:100721600-100723400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr2:100721800-100723000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
4	chr2:100721800-100723400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr2:100722000-100723000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:100722000-100723000	Flanking Active TSS	Fetal Brain Female	brain
7	chr2:100722000-100723200	Flanking Active TSS	Fetal Lung	lung
8	chr2:100722000-100723200	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr2:100722000-100723400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:100722000-100725200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:100722000-100729400	Weak transcription	Dnd41	blood
12	chr2:100722200-100723000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr2:100722200-100723200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:100722200-100723200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:100722200-100723400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr2:100722200-100723400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:100722200-100723400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr2:100722200-100726200	Genic enhancers	Primary B cells from cord blood	blood
19	chr2:100722200-100726800	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr2:100722200-100727600	Weak transcription	Primary T cells from cord blood	blood
21	chr2:100722400-100723000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:100722400-100723000	Weak transcription	Gastric	stomach
23	chr2:100722400-100723200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr2:100722400-100723400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:100722400-100723400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr2:100722400-100726200	Weak transcription	Thymus	Thymus
27	chr2:100722400-100726400	Weak transcription	Spleen	Spleen
28	chr2:100722400-100726600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:100722400-100726600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:100722400-100730000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:100722600-100723000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:100722600-100723000	Bivalent Enhancer	GM12878-XiMat	blood
33	chr2:100722600-100723200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:100722600-100723200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:100722600-100723200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:100722600-100723200	Enhancers	Ovary	ovary
37	chr2:100722600-100723200	Enhancers	NH-A	brain
38	chr2:100722600-100723400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:100722600-100723400	Enhancers	Brain Germinal Matrix	brain
40	chr2:100722600-100723400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr2:100722600-100723400	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr2:100722600-100724000	Enhancers	Fetal Stomach	stomach
43	chr2:100722600-100724600	Enhancers	Colon Smooth Muscle	Colon
44	chr2:100722600-100725400	Enhancers	Fetal Kidney	kidney
45	chr2:100722600-100726000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:100722600-100726000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:100722600-100726200	Weak transcription	Fetal Thymus	thymus
48	chr2:100722800-100723000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr2:100722800-100723200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:100722800-100723200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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